Fig. 2
Integration of GWAS, eQTL, and mQTL data for VDR and BACH2 genes. a –log10(P value) of SNPs from BCC GWAS analysis. Gene expression and methylation probes are annotated by red diamonds and blue circles, respectively. Solid diamonds and circles denote probes that passed the HEIDI filtering test (PHEIDI > 0.01). Yellow star highlights the top cis-eQTL SNP (rs7975232). b –log10(P value) of SNP association with gene expression (probe ENSG00000111424 tagging VDR). c –log10(P value) of SNP association with methylation (DNAm probe cg14854850). d The upper panel shows 25 chromatin state annotations under the genomic region (e.g. promoters and enhancers, annotated by colours on the right bar) from the Roadmap Epigenomics Mapping Consortium. Each row denotes one of the 127 samples with different tissue and cell types (each type annotated by colours on the left bar). The lower panel shows the genes underlying this region and their genomic positions. e –log10(P value) of SNPs from BCC GWAS analysis, as described in a. Yellow star highlights the top cis-eQTL SNP (rs7298038). f –log10(P value) of SNP association with gene expression (probe ENSG00000112182 tagging BACH2). g –log10(P value) of the SNP association with methylation (DNAm probe cg25204543). h The upper panel shows 25 chromatin state annotations as described in d. The lower panel shows the genes underlying this region and their genomic positions